Carlos M. Restrepo

Bogota, DC, Colombia

Last Updated: 09/26/2026

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Found 41 publications

One-year metreleptin in Colombian sisters with congenital leptin deficiency.

One-year metreleptin in Colombian sisters with congenital leptin deficiency.

Journal: Adipocyte
Published: May 26, 2025

Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.

Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.

Journal: Human molecular genetics
Published: May 19, 2025

Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome.

Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome.

Journal: Clinical case reports
Published: April 01, 2025

Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.

Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.

Journal: Frontiers in oncology
Published: February 19, 2025

Genetic Structure of the Y-Chromosome in Colombia: An Analysis of Regional Diversity and Ancestry.

Genetic Structure of the Y-Chromosome in Colombia: An Analysis of Regional Diversity and Ancestry.

Journal: American journal of human biology : the official journal of the Human Biology Council
Published: February 18, 2025

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

Journal: PloS one
Published: June 18, 2024

Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

Journal: Human genomics
Published: February 05, 2024

The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing.

The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing.

Journal: PloS one
Published: January 15, 2024

Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer.

Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer.

Journal: The application of clinical genetics
Published: November 02, 2023

Correction: Uveitis and Multiple Sclerosis: Potential Common Causal Mutations.

Correction: Uveitis and Multiple Sclerosis: Potential Common Causal Mutations.

Journal: Molecular neurobiology
Published: February 13, 2023

Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Journal: Frontiers in pharmacology
Published: September 18, 2022

Performance Comparison of a Duplex Implementation of the CDC EUA 2019-nCoV Assay with the Seegene Allplex-SARS-CoV-2 Assay for the Detection of SARS-CoV-2 in Nasopharyngeal Swab Samples.

Performance Comparison of a Duplex Implementation of the CDC EUA 2019-nCoV Assay with the Seegene Allplex-SARS-CoV-2 Assay for the Detection of SARS-CoV-2 in Nasopharyngeal Swab Samples.

Journal: Methods and protocols
Published: July 26, 2022
Showing 1-12 of 41

Last Updated: 09/26/2026